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Article

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.

Neurogenetics - 1 Oct 2021

Kloth Katja, Lozic Bernarda, Tagoe Julia, Hoffer Mariëtte J V, Van der Ven Amelie, Thiele Holger, Altmüller Janine, Kubisch Christian, Au Ping Yee Billie, Denecke Jonas, Bijlsma Emilia K, Lessel Davor

Abstract excerpt

ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34218362
DOI: 10.1007/s10048-021-00655-4
PMCID: PMC8426245

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